Works matching IS 03406717 AND DT 2018 AND VI 137 AND IP 5

Results: 8

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.

Published in:

2018

By:

Fritzen, Daniel;
Kuechler, Alma;
Grimmel, Mona;
Becker, Jessica;
Peters, Sophia;
Sturm, Marc;
Hundertmark, Hela;
Schmidt, Axel;
Kreiß, Martina;
Strom, Tim M.;
Wieczorek, Dagmar;
Haack, Tobias B.;
Beck-Wödl, Stefanie;
Cremer, Kirsten;
Engels, Hartmut

Publication type:

Case Study

Correction to: Assessing the causal relationship between obesity and venous thromboembolism through a Mendelian Randomization study.

Published in:

2018

By:

Lindström, Sara;
Germain, Marine;
Crous-Bou, Marta;
Smith, Erin N.;
Morange, Pierre-Emmanuel;
van Hylckama Vlieg, Astrid;
de Haan, Hugoline G.;
Chasman, Daniel;
Ridker, Paul;
Brody, Jennifer;
de Andrade, Mariza;
Heit, John A.;
Tang, Weihong;
De Vivo, Immaculata;
Grodstein, Francine;
Smith, Nicholas L.;
Tregouet, David;
Kabrhel, Christopher;
for the INVENT Consortium

Publication type:

Correction Notice

Correction to: A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans.

Published in:

2018

By:

Krall, M.;
Htun, S.;
Anand, D.;
Hart, D.;
Lachke, S. A.;
Slavotinek, A. M.

Publication type:

Correction Notice

Evidence of distinct RELN and TGFB1 genetic associations in familial and non-familial otosclerosis in a British population.

Published in:

Human Genetics, 2018, v. 137, n. 5, p. 357, doi. 10.1007/s00439-018-1889-9

By:

Mowat, Andrew J.;
Crompton, Michael;
Ziff, Joanna L.;
Aldren, Christopher P.;
Lavy, Jeremy A.;
Saeed, Shakeel R.;
Dawson, Sally J.

Publication type:

Article

Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions.

Published in:

Human Genetics, 2018, v. 137, n. 5, p. 365, doi. 10.1007/s00439-018-1888-x

By:

Neuhäusler, Lisa;
Summerer, Anna;
Cooper, David N.;
Mautner, Victor-F.;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Leveraging epigenomics and contactomics data to investigate SNP pairs in GWAS.

Published in:

Human Genetics, 2018, v. 137, n. 5, p. 413, doi. 10.1007/s00439-018-1893-0

By:

Manduchi, Elisabetta;
Williams, Scott M.;
Chesi, Alessandra;
Johnson, Matthew E.;
Wells, Andrew D.;
Grant, Struan F. A.;
Moore, Jason H.

Publication type:

Article

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.

Published in:

Human Genetics, 2018, v. 137, n. 5, p. 375, doi. 10.1007/s00439-018-1887-y

By:

Snijders Blok, Lot;
Hiatt, Susan M.;
Bowling, Kevin M.;
Prokop, Jeremy W.;
Engel, Krysta L.;
Cochran, J. Nicholas;
Bebin, E. Martina;
Bijlsma, Emilia K.;
Ruivenkamp, Claudia A. L.;
Terhal, Paulien;
Simon, Marleen E. H.;
Smith, Rosemarie;
Hurst, Jane A.;
The DDD study;
McLaughlin, Heather;
Person, Richard;
Crunk, Amy;
Wangler, Michael F.;
Streff, Haley;
Symonds, Joseph D.

Publication type:

Article

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

Published in:

Human Genetics, 2018, v. 137, n. 5, p. 389, doi. 10.1007/s00439-018-1880-5

By:

Wesdorp, Mieke;
de Koning Gans, Pia A. M.;
Schraders, Margit;
Oostrik, Jaap;
Huynen, Martijn A.;
Venselaar, Hanka;
Beynon, Andy J.;
van Gaalen, Judith;
Piai, Vitória;
Voermans, Nicol;
van Rossum, Michelle M.;
Hartel, Bas P.;
Lelieveld, Stefan H.;
Wiel, Laurens;
Verbist, Berit;
Rotteveel, Liselotte J.;
van Dooren, Marieke F.;
Lichtner, Peter;
Kunst, Henricus P. M.;
Feenstra, Ilse

Publication type:

Article